Ausgabe 5/2002
Inhalt (11 Artikel)
Phenylketonuria in adulthood: A collaborative study
R. Koch, B. Burton, G. Hoganson, R. Peterson, W. Rhead, B. Rouse, R. Scott, J. Wolff, A. M. Stern, F. Guttler, M. Nelson, F. de la Cruz, J. Coldwell, R. Erbe, M. T. Geraghty, C. Shear, J. Thomas, C. Azen
Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mice
S. Yannicelli, D. M. Medeiros
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
Z. Rahbeeni, F. M. Vaz, K. Al-Hussein, M. P. Bucknall, J. Ruiter, R. J. Wanders, M. S. Rashed
Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency
D. Lev, E. Gilad, E. Leshinsky-Silver, S. Houri, A. Levine, A. Saada, T. Lerman-Sagie
A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome
M. H. Odièvre, A. Lombès, P. Dessemme, R. Santer, M. Brivet, B. Chevallier, B. Lagardère, M. Odièvre
Identification of novel mutations in the NPC1 gene in German patients with Niemann–Pick C disease
W. E. Kaminski, H. H. Klünemann, B. Ibach, C. Aslanidis, H. E. Klein, G. Schmitz
Pamidronate treatment improves bone mineral density in children with Menkes disease
S. Kanumakala, A. Boneh, M. Zacharin
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
W. J. Kleijer, V. H. Garritsen, M. Linnebank, P. Mooyer, J. G. M. Huijmans, A. Mustonen, K. O. J. Simola, M. Arslan-Kirchner, R. Battini, P. Briones, E. Cardo, H. Mandel, E. Tschiedel, R. J. A. Wanders, H. G. Koch
Lipoprotein lipase deficiency and transient diabetes mellitus in a neonate
P. Raupp, C. Keenan, M. Dowman, R. Nath, J. Hertecant
A novel FUCA1 mutation causing fucosidosis in a Chinese boy
P. Ip, W. HGoh, K. W. Chan, P. T. Cheung